Variant #0000062407 (NC_000002.11:g.175619123T>C, CHRNA1(NM_001039523.2):c.439A>G)

Individual ID 00035218
Chromosome 2
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.175619123T>C
DNA change (hg38) g.174754395T>C
Published as -
ISCN -
DB-ID CHRNA1_000043
Variant remarks Polyphen-2: possibly damaging
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNA1 NM_001039523.2 ?/. - c.439A>G r.(?) p.(Ile147Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035288 DNA SEQ - - CHRNA1 1 Andreas Laner